Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV001703530 | SCV000515484 | likely benign | not provided | 2020-12-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000465694 | SCV000556154 | likely benign | Juvenile polyposis syndrome | 2023-12-13 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002318398 | SCV000676269 | likely benign | Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome | 2015-10-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |
Color Diagnostics, |
RCV000569140 | SCV001340578 | likely benign | Hereditary cancer-predisposing syndrome | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Ce |
RCV001703530 | SCV002546012 | likely benign | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | SMAD4: BP4, BP7 |